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Article

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

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1997

Endo T, Kawai H

Abstract excerpt

Malignant limb-girdle muscular dystrophy (MLGMD) (Miyoshi) is considered to be roughly the same as SCARMD (Ben Hamida) in its clinical features and mode of inheritance. Adhalin(alpha-Sarcoglycan) gene mutations have been reported in 51 families with MLGMD/SCARMD including our 8 families. The muta...

Topics

Cytoskeletal Proteins
Exons
Genes, Recessive
Heterozygote
Homozygote
Humans
Membrane Glycoproteins
Muscular Dystrophies
Mutation
Sarcoglycans

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9436428

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9436428-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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[Adhalin(alpha-sarcoglycan) gene mutations in patients with malignant limb-girdle muscular dystrophy (MLGMD) (Miyoshi)].PMID 9436428Read ↗

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

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

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

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

[Severe childhood autosomal recessive muscular dystrophy].Semantic proximity Read ↗

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

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.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 ↗

From adhalinopathies to alpha-sarcoglycanopathies: an overview.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 ↗

Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.Semantic proximity Read ↗

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

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