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Article

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

Rinsho shinkeigaku = Clinical neurology - 1 Mar 1996

Endo T, Akaike M, Kawai H, Matsumura K, Saito S

Abstract excerpt

We have reported adhalin gene mutations in 4 patients from 3 families with malignant limb-girdle muscular dystrophy (MLGMD), and summarized the clinical features in adhalin-deficient muscular dystrophy (ADMD) reported as severe childhood autosomal recessive muscular dystrophy (SCARMD) in the English literatures. Adhalin cDNA amplified from RNA by reverse transcription polymerase chain reaction (RT-PCR) was...

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Identifiers

PMID: 8741343

Genes

DMD

Provenance

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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[Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy].PMID 8741343Read ↗

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

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

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

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

Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.Semantic proximity Read ↗

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

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

[Early onset adhalinopathy (LGMD2D) mimicking congenital muscular dystrophy].Semantic proximity Read ↗

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severitySemantic proximity Read ↗

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.Semantic proximity Read ↗

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