Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

Neurogenetics

Volumn 15, Issue 3, 2014, Pages 171-182

  Park, Mi Hyun ^a   Woo, Hae Mi ^a   Hong, Young Bin ^b   Park, Ji Hoon ^c   Yoon, Bo Ram ^c   Park, Jin Mo ^d   Yoo, Jeong Hyun ^d   Koo, Heasoo ^d   Chae, Jong Hee ^e   Chung, Ki Wha ^c   Choi, Byung Ok ^b   Koo, Soo Kyung ^a  

^a Korea National Institute of Health   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Kongju National University   (South Korea)

^d Ewha Womans University School of Medicine   (South Korea)

^e Seoul National University College of Medicine   (South Korea)

Author keywords

C10orf2; Infantile onset spinocerebellar ataxia (IOSCA); Mitochondria; Myopathy; Neuropathy; Whole exome sequencing (WES)

Indexed keywords

MITOCHONDRIAL DNA; C10ORF2 PROTEIN, HUMAN; DNA HELICASE; MITOCHONDRIAL PROTEIN;

ADULT; ARTICLE; ATAXIA; ATHETOSIS; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME 10; CLINICAL FEATURE; DISEASE SEVERITY; FAMILY STUDY; FEMALE; GENE DELETION; GENE MUTATION; HEARING IMPAIRMENT; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANTILE ONSET SPINOCEREBELLAR ATAXIA; INTELLECTUAL IMPAIRMENT; KOREAN (PEOPLE); MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOPATHY; NERVE BIOPSY; NERVE FIBER DEGENERATION; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; OPEN READING FRAME; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY; SEQUENCE ANALYSIS; SPINOCEREBELLAR DEGENERATION; SURAL NERVE; WHOLE EXOME SEQUENCING; AMINO ACID SEQUENCE; BRAIN; COMPLICATION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; MUSCLE DISEASE; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; RECESSIVE GENE; SKELETAL MUSCLE; YOUNG ADULT;

ADULT; AMINO ACID SEQUENCE; BRAIN; DNA HELICASES; DNA, MITOCHONDRIAL; FEMALE; GENES, RECESSIVE; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; SEQUENCE DELETION; SURAL NERVE; YOUNG ADULT;

EID: 84904569525     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-014-0405-1     Document Type: Article

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