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Topic: Distal myopathy, Nonaka type

	Distal myopathy, Nonaka type
		Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.
		This clinically distinct myopathy is a mid-life onset distal myopathy characterised by tibialis anterior weakness and progressive respiratory muscle involvement present from the onset of the disease.
		It is a distal myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait.
	www.orpha.net /static/GB/distal_myopathy.html (543 words)

	Autophagic Vacuolar Myopathies (Site not responding. Last check: 2007-11-01)
		Hereditary myopathies characterized by the development of autophagic vacuoles can be categorized into three groups: rimmed vacuolar myopathies, acid maltase deficiency (glycogen storage disease type II), and myopathies characterized by the autophagic vacuoles with unique vacuolar membranes.
		Distal myopathy with rimmed vacuoles was originally reported in 1981 by Nonaka et al.
		Distal myopathy with rimmed vacuoles and HIBM have long been suspected to be the same disease because the clinicopathologic features are essentially the same and both diseases map to the same chromosomal locus [4, 5].
	www.current-reports.com /article.cfm?PubID=NR03-1-2-02&Type=Article&KeyWords= (3455 words)

	Encyclopedia (Site not responding. Last check: 2007-11-01)
		In the hypotonic-sclerotic variety (Ullrich's syndrome) there is a non-progressive congenital myopathy with slender muscles, proximal contractures, severe distal hypotonia and hyperextensibility, relative sparing of facial muscles, prominence of the calcaneus, a high arched palate, hyperhidrosis, and normal intelligence.
		Distal muscular dystrophy (also known as the Welander type) is rare in Britain and in the United States, but is not uncommon in Sweden.
		Many types of appliance are of great value in improving the quality of life at all ages, and the advice of a skilled occupational therapist may be invaluable.
	www.eamg-med.com /members/encyclopedia/25/25_2.shtml (4804 words)

	Baylor Neurology Case of the Month (Site not responding. Last check: 2007-11-01)
		Most congenital myopathies are characterized by the presence of a specific structural alteration in muscle fibers, such as nemaline myopathy or central core disease.
		Nemaline myopathy is an uncommon muscle disease with a wide spectrum of phenotypes, including a congenital form with neonatal onset and fatal outcome, a congenital form with slowly progressive or nonprogressive weakness, and a sporadic adult-onset form.
		In patients with an adult onset form of nemaline myopathy, there is often no family history and no symptoms preceding the onset of proximal and distal weakness in the third to sixth decades.
	www.bcm.edu /neurol/challeng/pat34/summary.html (1569 words)

	Dissertations from Karolinska Institutet - Published by Karolinska Institutet Karolinska Institutet - ki.se
		Distal myopathies are a group of muscular disorders described in many countries with different inheritance patterns and variable progression rates.
		Welander distal myopathy (WDM) is characterised by autosomal dominant inheritance, late onset and distal distribution of muscular weakness.
		The strict distal distribution in manifest and heterozygous cases was confirmed in with magnetic resonance imaging, where also affection of posterior muscle groups of the lower extremity was demonstrated.
	diss.kib.ki.se /1998/91-628-3263-8 (570 words)

	Archived Texts (Site not responding. Last check: 2007-11-01)
		Bethlem myopathy and Ullrich scleroatonic muscular dystrophy are both characterized by distal hyperlaxity that is typical of connective tissue disorders.
		Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
		New mutations in collagen VI a1, a2 genes cause What’s new in neuromuscular disorders?: Bethlem and Ullrich myopathies 197 autosomal dominant muscular dystrophy.
	ucmd.newmex.net /text.php?ref_num=4 (3867 words)

	Distal myopathies: clinical and molecular diagnosis and classification -- MASTAGLIA and LAING 67 (6): 703 -- Journal of ...
		Algorithm for the diagnosis and classification of the distal myopathies.
		Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14.
		An unusual late-onset distal myopathy with rimmed vacuoles and mitochondrial paracrystalline inclusions.
	jnnp.bmjjournals.com /cgi/content/full/67/6/703 (3010 words)

	NMDInfo.net - Disease Information .
		Late adult onset myopathy with onset in legs (autosomal dominant): muscle weakness usually appears after the age of 35 and is confined to the lower legs, especially the tibialis anterior.
		Early adult onset myopathy with onset in anterior compartment of lower legs: initial muscle weakness is accompanied by foot drop.
		Several forms of distal myopathy have been identified, and inheritance may be either autosomal dominant or autosomal recessive.
	www.nmdinfo.net /disease_deatails.php?id=13 (599 words)

	Inclusion-Body Myositis and Myopathies - Cambridge University Press
		The sporadic type (s-IBM) is probably the most common muscle disease among those ailments that strike first in adulthood (particularly people over 50).
		Hereditary inclusion-body myopathy (h-IBM) with quadriceps sparing: epidemiology and genetics; 12: Familial autosomal-recessive inclusion-body myositis with asymptomatic leukoencephalopathy; 13: Welander distal myopathy - clinical, pathophysiological, and molecular aspects; 14.
		Distal myopathy with rimmed vacuoles, inclusion-body myositis and related disorders in Japan; 16.
	www.cambridge.org /aus/catalogue/print.asp?isbn=0521571057&print=y (412 words)

	Distal Myopathy, Nonaka Type
		type Distal myopathy Markesbery-Griggs type Distal myopathy with vocal cord weakness Distal myopathy, Nonaka type Distal myopathy Distal...
		Identical dysferlin mutation in limb-girdle muscular dystrophy type...
		Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy...
	www.medicality.org.uk /diseases/distal-myopathy,-nonaka-type.php (208 words)

	Central core disease: clinical, pathological, and genetic features -- Quinlivan et al. 88 (12): 1051 -- Archives of ...
		myopathy allelic to malignant hyperthermia (MH) caused by mutations
		A1: type 1 fibre uniformity (all dark fibres), central cores, and increased adipose and connective tissue.
		D1: type uniformity, with cores in most fibres, a wide variability in fibre size, and excess adipose tissue.
	adc.bmjjournals.com /cgi/content/full/88/12/1051 (3294 words)

	Core Curriculum - POSNA (Site not responding. Last check: 2007-11-01)
		myopathy (moderate congenital form) is characterized by delayed motor milestones, and occasional spinal deformity.
		Central core disease and nemaline rod neuropathy are associated with an increased risk of malignant hyperthermia during anesthesia.
		Multicore myopathy: respiratory failure and paraspinal muscle contractures are important complications.
	www.posna.org /index?service=page/coreCurriculum&article=congenitalMyopathies.html (330 words)

	Muscular Dystrophy -- eCureMe.com
		The disease groupings are further distinguished by differences in distribution (which muscles are affected first), and severity of weakness, age of onset, inheritance, and rate of progression.
		Distal MD -- affects the distal muscles (the muscles farthest from the center of the body): hands, lower part of legs, progressing to more central muscles over time.
		Autosomal recessive (one defective gene from both parents are needed to cause MD) -- congenital (present at birth), Nonaka, Miyoshi, and some types of limb-girdle MD are seen in both males and females.
	www.ethex.com /emyhealth/data/Muscular_Dystrophy.asp (1662 words)

	Myopathy: Distal Weakness
		Not allelic with Miyoshi myopathy and LGMD 2B
		Distal Myopathy with Vocal Cord and Pharyngeal Weakness (MPD2)
		Myopathy with Paget disease of Bone, type 2
	www.neuro.wustl.edu /neuromuscular/musdist/distal.html (867 words)

	Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy -- Ro et al. 76 (5): 752 -- Journal of ...
		Distal myopathy with rimmed vacuoles (DMRV) is characterised
		Rimmed vacuolar distal myopathy: a clinical, electrophysiological, histopathology and computed tomographic study of seven cases.
		Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene.
	jnnp.bmjjournals.com /cgi/content/full/76/5/752 (1703 words)

	Neuromuscular Disorders. (Site not responding. Last check: 2007-11-01)
		Nonaka, N. Murakami, M. Kawai, Distal myopathy with rimmed vacuole formation (DMRV), Neuromuscular Disorders 7 (6-7) (1997) pp.
		F.J.M. Gabreels, Q.H. Leyten, H.J. ter Laak, W.O. Renier, B. Ceulemans, J.J. Martin, Autosomal dominant type of congenital muscular dystrophy, Neuromuscular Disorders 7 (6-7) (1997) pp.
		Muntoni, J. Taylor, V. Dubowitz, C.A. Sewry, An early-onset autosomal recessive muscular dystrophy with distal wasting and rigidity of the spine, Neuromuscular Disorders 7 (6-7) (1997) pp.
	www1.elsevier.com /cdweb/journals/09608966/viewer.htt?viewtype=keywords&rangeselected=7 (993 words)

	Effects of botulinum toxin A injection and exercise on the growth of juvenile rat gastrocnemius muscle -- Chen et al. ...
		Distal paralysis of Btx-injected limbs was visually noticeable by 24 h postinjection.
		the atrophy of type IIa and IId/x fibers in the EDL and type I
		Botulinum toxin type A neuromuscular blockade in the treatment of lower extremity spasticity in cerebral palsy: a randomized, double-blind, placebo-controlled trial.
	jap.physiology.org /cgi/content/full/93/4/1437 (7470 words)

	Phenotypic Behavior of Caveolin-3 Mutations That Cause Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD-1C). ...
		Note that in cells co-expressing wild type tagged forms of caveolin-3 (Myc and GFP), both tagged forms are co-localized to the plasma membrane (upper panel).
		However, in cells co-expressing wild type caveolin-3 (Myc) and LGMD-1C mutant forms of caveolin-3 (GFP) (lanes 2 and 3), both wild type and LGMD-1C mutants are expressed at dramatically lower levels (~15-20% the level of expression seen in lane 1).
		The expression of caveolins 1, 2, and 3 was assessed by immunoblotting with a panel of isoform-specific caveolin monoclonal antibody probes (Cav-1, mAb 2297; Cav-2, mAb 65; and Cav-3, mAb 26).
	www.jbc.org /cgi/content/full/274/36/25632 (6327 words)

	Children's Hospital Boston - Investigators
		The nemaline myopathies are a group of related congenital myopathies characterized by weakness and the presence of nemaline rods in affected skeletal muscles.
		-actin gene in patients with actin myopathy and nemaline myopathy.
		Sanoudou D, Beggs A. Clinical and genetic heterogenaity in nemaline myopathy, a disease of sarcomeric thin filaments.
	www.childrenshospital.org /research/mrrc/investigators/beggs/index.html (2236 words)

	Developmental and genetic diseases
		Nemaline myopathy caused by mutation in the alpha-actin gene (Nemaline myopathy 3 [4])
		Neuronopathy, distal hereditary motor, type VI (Spinal muscular atrophy with respiratory distress 1 [4])
		Neuropathy, hereditary sensory radicular, autosomal recessive (Neuropathy, hereditary sensory and autonomic, type II [2])
	www.gfmer.ch /genetic_diseases_v2/index.php?disinit=N (529 words)

	Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of Three COL6A2 Mutations in Two Families with ...
		heterozygous mutations in collagen VI caused Bethlem myopathy.
		A, Northern blot analysis of the patients and parents in families A and B. Total RNA (3 µg) was separated on a 0.8% denaturing agarose gel, transferred to a nylon membrane, and hybridized with a mixture of
		Samples are from a normal individual (lane 1); the patient, father, and mother from family A (lanes 2-4); the patient, father, and mother from family B (lanes 5-7); and two patients with Bethlem myopathy (lanes 8 and 9).
	www.jbc.org /cgi/content/full/277/46/43557 (5728 words)

	Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular ...
		Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
		Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
		A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding.
	jmg.bmjjournals.com /cgi/content/full/42/2/108 (6012 words)

	Cardiac Involvement in Mitochondrial Diseases : A Study on 17 Patients With Documented Mitochondrial DNA Defects -- ... (Site not responding. Last check: 2007-11-01)
		A, Kearns-Sayre syndrome and ocular myopathy: Southern blot analysis of mitochondrial DNA from a patient with Kearns-Sayre syndrome (patient 2) and a healthy individual.
		C, Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): A 399-bp fragment of mitochondrial DNA was amplified and digested with Apa I. Mutant sequence from a patient with MELAS (patient 17) has a novel Apa I site and was cleaved into 305- and 94-bp fragments.
		Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.
	circ.ahajournals.org /cgi/pmidlookup?view=full&pmid=7850981 (4627 words)

	eMedicine - Inclusion Body Myositis : Article by Isabel Periquet Collins, MD (Site not responding. Last check: 2007-11-01)
		Decreased sensation in the distal lower extremities and reduced ankle jerks are not uncommon, as some patients have a concurrent polyneuropathy, which may be disease-related.
		These also may be seen in other conditions, such as inherited distal myopathies and oculopharyngeal muscular dystrophy (see Table 1).
		Routine follow-up visits at intervals contingent upon the progression and severity of involvement are indicated to assess the patient's strength, tolerance of exertion, and compromise in occupation or activities of daily living.
	www.emedicine.com /neuro/topic422.htm (7932 words)

	[No title]
		The autosomal dominant types are usually less severe than the autosomal recessive types.
		LGMD 1B (Bethlem myopathy) vs. Emery-Dreifuss muscular dystrophy: In Emery-Dreifuss muscular dystrophy, there is a clinical triad of heart conduction problem, contractures at elbows, ankles and neck and muscle weakness or wasting; skin biopsy and immunohistochemical demonstration of the absence of emerin in smooth muscle.
		Ozawa E, Nishino I, Nonaka I. Sarcolemmopathy: muscular dystrophies with cell membrane defects.
	moon.ouhsc.edu /kfung/JTY1/NeuroHelp/ZNN0IE19.htm (980 words)

	UniProtKB/Swiss-Prot entry Q9Y223 [GLCNE_HUMAN] Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine ...
		Tomimitsu H. Ishikawa K. Shimizu J. Ohkoshi N. Kanazawa I. Mizusawa H. "Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.";
		Hereditary inclusion body myopathies are a group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions.
		As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens.
	www.expasy.org /uniprot/Q9Y223 (1250 words)

	Missense mutations of ACTA1 cause dominant congenital myopathy with cores -- Kaindl et al. 41 (11): 842 -- Journal of ...
		PCR fragments of the mutated allele are cut into two fragments of 256 and 116 bp, whereas the wild type sequence remains uncut (372 bp).
		Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
		Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
	jmg.bmjjournals.com /cgi/content/full/41/11/842 (3400 words)

	Muscle Biopsy
		Absent myosin ATPase staining at all pHs: Myosin deficiency myopathies
		Type grouping: Chronic denervation with reinnervation or collateral sprouting
		Titin: IHC not useful for diagnosis of LGMD 2J or Distal myopathy
	www.neuro.wustl.edu /neuromuscular/lab/mbiopsy.htm (801 words)

	The Spectrum of Systemic Involvement in Adults Presenting with Renal Lesion and Mitochondrial tRNA(Leu) Gene Mutation ...
		Type 2 diabetes was diagnosed at age 32.
		At age 39, type 2 diabetes and hypertension were found.
		Goto Yi, Nonaka I, Horai S: A mutation in the tRNA Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
	jasn.asnjournals.org /cgi/content/full/14/8/2099 (4393 words)

	Myotonic Dystrophy Type 1
		Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system.
		Myotonic dystrophy type 2 is caused by a CCTG repeat expansion in intron 1 of the gene
		This testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in asymptomatic individuals.
	www.geneclinics.org /profiles/myotonic-d/details.html (4695 words)

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