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[Gene analysis in patients with muscular dystrophy: alpha-sarcoglycan (adhalin) gene mutations in patients with malignant limb-girdle muscular dystrophy].

Rinsho byori. The Japanese journal of clinical pathology - 1 Feb 1997

Akaike M, Kawai H

Abstract excerpt

Malignant limb-girdle muscular dystrophy (MLGMD) was proposed by Miyoshi et al. in 1966 as a clinical and genetic entity of muscular dystrophy, with clinical features similar to Duchenne muscular dystrophy but showing autosomal recessive inheritance. Recently, deficiency of alpha-sarcoglycan (adhalin), which is one of the components of dystrophin-glycoprotein complex, in the skeletal muscle has been found in...

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Identifiers

PMID: 9120997

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Gene analysis in patients with muscular dystrophy: alpha-sarcoglycan (adhalin) gene mutations in patients with malignant limb-girdle muscular dystrophy].PMID 9120997Read ↗

[Adhalin(alpha-sarcoglycan) gene mutations in patients with malignant limb-girdle muscular dystrophy (MLGMD) (Miyoshi)].Semantic proximity Read ↗

[Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy].Semantic proximity Read ↗

[The frequency of patients with adhalin deficiency in a muscular dystrophy patient population].Semantic proximity Read ↗

[Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)].Semantic proximity Read ↗

alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations.Semantic proximity Read ↗

A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D.Semantic proximity Read ↗

New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency.Semantic proximity Read ↗

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Mutations in the sarcoglycan genes in patients with myopathy.Semantic proximity Read ↗

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[Identification of adhalin gene mutation in limb-girdle muscular dystrophy in Chinese].Semantic proximity Read ↗

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).Semantic proximity Read ↗

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