Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie - 1 Jan 1994

Romero N B, Tomé F M, Leturcq F, el Kerch F E, Azibi K, Bachner L, Anderson R D, Roberds S L, Campbell K P, Fardeau M

Abstract excerpt

Severe autosomal recessive muscular dystrophy (SCARMD), McKusick n. 253700, has been originally described in North-African populations, in which significant linkage has been established with DNA markers mapping to the proximal region of the long arm of chromosome 13, without evidence for heterogeneity of the SCARMD locus in these populations. A striking feature of this disease is the isolated deficiency of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Genes, Recessive

Share to Genetic Variation

Share to Membrane Glycoproteins

Share to Muscles

Share to Pedigree

Source

Identifiers

PMID: 7987694

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.PMID 7987694Read ↗

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

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

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

[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 ↗

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 ↗

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

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

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.Semantic proximity Read ↗

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

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.