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Article

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

Annals of neurology - 1 Sept 1995

Ljunggren A, Duggan D, McNally E, Boylan K B, Gama C H, Kunkel L M, Hoffman E P

Abstract excerpt

In our experience, more than half of muscular dystrophy patients show a primary dystrophinopathy. The underlying cause of muscular dystrophy in the vast majority of patients with normal dystrophin is unknown. Recently, a French family with 4 young siblings showing a muscular dystrophy of unknown progression was shown to have a primary deficiency of "adhalin," the 50-kd dystrophin-associated protein. Here we...

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Identifiers

PMID: 7668821
DOI: 10.1002/ana.410380305

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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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Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.PMID 7668821Read ↗

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

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

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

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 ↗

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

Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin).Semantic proximity Read ↗

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

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

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.Semantic 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 ↗

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

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