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Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy.

Molecular diagnosis & therapy - 1 Sept 2022

Yogev Yuval, Bistritzer Jacob, Sadaka Yair, Michaelovsky Analia, Cavari Yuval, Feinstein Yael, Abu-Madegem Munir, Fellig Yakov, Wormser Ohad, Drabkin Max, Halperin Daniel, Birk Ohad S

Abstract excerpt

INTRODUCTION: Congenital myopathies are a broad group of inborn muscle disorders caused by a multitude of genetic factors, often characterized by muscle atrophy and hypotonia. METHODS: Clinical studies, imaging, histology, whole-exome sequencing (WES) and muscle tissue RNA studies. RESULTS: We describe a severe congenital myopathy manifesting at birth with bilateral clubfeet, delayed motor development and...

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Muscle Hypotonia
Muscular Atrophy
Muscular Diseases
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35796944
DOI: 10.1007/s40291-022-00601-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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