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

Molecular Neurobiology

Volumn 53, Issue 8, 2016, Pages 5097-5102

  Zheng, Wen ^a   Chen, Han ^a   Deng, Xiong ^a   Yuan, Lamei ^a   Yang, Yan ^a   Song, Zhi ^a   Yang, Zhijian ^a   Wu, Yuan ^a   Deng, Hao ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Exome sequencing; Genetic testing; Limb girdle muscular dystrophies; Mutation; TTN

Indexed keywords

CONNECTIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; EXOME; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HAN CHINESE; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY 2J; MALE; PEDIGREE; ASIAN CONTINENTAL ANCESTRY GROUP; FAMILY; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CONNECTIN; EXOME; FAMILY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PEDIGREE;

EID: 84944704146     PISSN: 08937648     EISSN: 15591182     Source Type: Journal    
DOI: 10.1007/s12035-015-9439-0     Document Type: Article

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