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Article

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

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

Hayashi Y K, Arahata K

Abstract excerpt

Immunocytochemical deficiency of alpha-sarcoglycan (adhalin) in the skeletal muscle that is associated with normal dystrophin expression has been called adhalinopathy. However, recent molecular biological and genetic studies revealed that alpha-sarcoglycan is one of four subunits of sarcoglycans (alpha-delta) or sarcoglycan complex. Mutations of any one of the genes of these subunits cause loss of sarcoglycan...

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Source

Identifiers

PMID: 9436429

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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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[The frequency of patients with adhalin deficiency in a muscular dystrophy patient population].PMID 9436429Read ↗

[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 ↗

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From adhalinopathies to alpha-sarcoglycanopathies: an overview.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 ↗

Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.Semantic proximity Read ↗

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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 ↗

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

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