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Article

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.

BioMed research international - 1 Jan 2016

Yis Uluç, Baydan Figen, Karakaya Mert, Hız Kurul Semra, Cirak Sebahattin

Abstract excerpt

Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family admitted for psychomotor delay. Physical examination revealed proximal muscle weakness, contractures in the knee of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27123443
DOI: 10.1155/2016/3128735
PMCID: PMC4830701

Genes

CHKB

Variants

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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