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Article

Mutation studies in X-linked myotubular myopathy in three Indian families.

Indian journal of pediatrics - 1 Apr 2010

Bijarnia Sunita, Puri Ratna D, Jain Monika, Kler Neelam, Roy Subimal, Urtizberea J Andoni, Biancalana Valerie, Verma I C

Abstract excerpt

Congenital myopathies are a group of genetic disorders characterized by generalised muscle hypotonia and weakness of varying severity. They are distinct entities and do not include muscular dystrophies, metabolic myopathies and mitochondrial disorders. Myotubular myopathy is a rare sub type within this group of disorders. Clinical differentiation of the various types is difficult and requires muscle biopsy with...

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Share to MTM1 gene
Share to Genetic Diseases, X-Linked

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

Share to Infant, Newborn

Share to Muscle, Skeletal

Share to Mutation

Share to Myopathies, Structural, Congenital

Share to Protein Tyrosine Phosphatases, Non-Receptor

Source

Identifiers

PMID: 20358311
DOI: 10.1007/s12098-010-0057-6

Genes

MTM1

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.

Related research

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Mutation studies in X-linked myotubular myopathy in three Indian families.PMID 20358311Read ↗

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