The de novo missense mutation N117S in skeletal muscle α-actin 1 causes a mild form of congenital nemaline myopathy

Molecular Medicine Reports

Volumn 14, Issue 2, 2016, Pages 1693-1696

  Yang, Liu ^a   Yu, Ping ^a   Chen, Xiang ^a   Cai, Tao ^a,b  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

Author keywords

ACTA1; Chinese; Mutation; Nemaline myopathy; Target capture sequencing

Indexed keywords

ALPHA ACTIN; ALPHA ACTIN 1; CREATINE KINASE; GENOMIC DNA; UNCLASSIFIED DRUG; ACTININ; ACTN1 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1Q; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ELECTROMYOGRAM; EXOME; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; HAN CHINESE; HUMAN; MISSENSE MUTATION; MOTOR PERFORMANCE; MUSCLE WEAKNESS; NEMALINE MYOPATHY; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN FUNCTION; SCHOOL CHILD; SKELETAL MUSCLE; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHEMISTRY; DNA MUTATIONAL ANALYSIS; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; MOLECULAR MODEL; MYOPATHIES, NEMALINE; PROTEIN CONFORMATION;

ACTININ; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHILD; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; MYOPATHIES, NEMALINE; PHENOTYPE; PROTEIN CONFORMATION;

EID: 84978386987     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2016.5429     Document Type: Article

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