September 21, 2015Molecular NeurobiologyOpen Access

Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J

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Population

A five-generation Chinese Han pedigree with autosomal recessive Limb-girdle muscular dystrophy (LGMD)

Comparison

Exome sequencing vs Normal controls

Design

Case_series

Authors

WZWen ZhengShangrao Normal University HCHan ChenKunming University of Science and Technology XDXiong DengFirst Affiliated Hospital of Henan University of Science and Technology

Discussion

Member takes

Implication

May broaden TTN spectrum in LGMD2J; leaves open whether genetic testing should guide monitoring.

Structured PICO

Population

A five-generation Chinese Han pedigree with autosomal recessive Limb-girdle muscular dystrophy (LGMD)

Intervention

Exome sequencing

Comparator

Normal controls

Outcome

Identification of the responsible gene mutationsurrogate

The identification of a novel TTN mutation broadens the genetic spectrum of Limb-Girdle Muscular Dystrophy 2J and highlights the role of genetic testing in guiding cardiorespiratory monitoring.

Cite This Study

Zheng et al. (2015) studied this question.

synapsesocial.com/papers/6a824713d84e418e14ffb0a9 https://doi.org/10.1007/s12035-015-9439-0

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Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider