The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

doi:10.1186/s13023-018-0859-6

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Article

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Orphanet journal of rare diseases - 14 Aug 2018

Wang Liang, Zhang Victor Wei, Li Shaoyuan, Li Huan, Sun Yiming, Li Jing, Zhu Yuling, He Ruojie, Lin Jinfu, Zhang Cheng

Abstract excerpt

BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles. Although the condition has been well-characterized, clinical and genetic heterogeneity can be observed in patients with LGMD. Here, we aimed to describe the clinical manifestations and genetic variability among a cohort of patients with LGMD...

Topics

Adolescent
Adult
Age of Onset
Asian People
China
Female
Genetic Variation
Humans
Magnetic Resonance Imaging
Male
Muscle, Skeletal
Muscular Dystrophies, Limb-Girdle
Young Adult

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Identifiers

PMID: 30107846
DOI: 10.1186/s13023-018-0859-6
PMCID: PMC6092860

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