MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.

doi:10.1016/j.nmd.2021.04.004

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Article

MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.

Neuromuscular disorders : NMD - 1 Jul 2021

Atemin Slavena, Todorov Tihomir, Maver Ales, Chamova Teodora, Georgieva Bilyana, Tincheva Savina, Pacheva Iliyana, Ivanov Ivan, Taneva Ani, Zlatareva Dora, Tournev Ivailo, Guergueltcheva Velina, Gospodinova Mariana, Chochkova Lyubov, Peterlin Borut, Mitev Vanyo, Todorova Albena

Abstract excerpt

Pathogenic variants in MYH7 cause a wide range of cardiac and skeletal muscle diseases with childhood or adult onset. These include dilated and/or hypertrophic cardiomyopathy, left ventricular non-compaction cardiomyopathy, congenital myopathies with multi-minicores and myofiber type disproportion, myosin storage myopathy, Laing distal myopathy and others (scapulo-peroneal or limb-girdle muscle forms). Here we...

Topics

Adult
Bulgaria
Cardiac Myosins
Child, Preschool
Distal Myopathies
Female
Humans
Infant
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Muscular Diseases

Muscular Dystrophies, Limb-Girdle

Mutation

Myosin Heavy Chains

Pedigree

Penetrance

Phenotype

Source

Open in PubMed

Identifiers

PMID: 34053846
DOI: 10.1016/j.nmd.2021.04.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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