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Article

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

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

Matsumura K

Abstract excerpt

Dystrophin is a cytoskeletal protein complexed with a number of cell membrane glycoproteins to from the dystrophin-glycoprotein complex (DGC) in striated muscle. The dystroglycan complex, one of the functional subcomplexes composing the DGC, is a novel type of laminin receptor playing active roles in signal transduction. Another functional subcomplex composing the DGC is the sarcoglycan complex, comprised of...

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PMID: 9436427

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

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Research trail→

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[Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)].PMID 9436427Read ↗

[Severe childhood autosomal recessive 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 ↗

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

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

Sarcoglycanopathies: an update.Semantic proximity Read ↗

From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy.Semantic proximity Read ↗

ε-Sarcoglycan, a Broadly Expressed Homologue of the Gene Mutated in Limb-Girdle Muscular Dystrophy 2DSemantic proximity Read ↗

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

Sarcoglycanopathies: molecular pathogenesis and therapeutic prospectsSemantic proximity Read ↗

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

[Early onset adhalinopathy (LGMD2D) mimicking congenital 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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