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Article

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

BMC musculoskeletal disorders - 4 May 2016

Inashkina Inna, Jankevics Eriks, Stavusis Janis, Vasiljeva Inta, Viksne Kristine, Micule Ieva, Strautmanis Jurgis, Naudina Maruta S, Cimbalistiene Loreta, Kucinskas Vaidutis, Krumina Astrida, Utkus Algirdas, Burnyte Birute, Matuleviciene Ausra, Lace Baiba

Abstract excerpt

BACKGROUND: Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis. METHODS: We...

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Source

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Identifiers

PMID: 27142102
DOI: 10.1186/s12891-016-1058-z
PMCID: PMC4855345

Genes

CAPN3
FKRP
ANO5
DYSF
CLCN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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