A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Hong, Young B ^a   Lee, Ja H ^b   Park, Jin Mo ^c   Choi, Yu Ri ^c   Hyun, Young S ^b   Yoon, Bo R ^b   Yoo, Jeong H ^c   Koo, Heasoo ^c   Jung, Sung Chul ^c   Chung, Ki W ^b   Choi, Byung Ok ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Kongju National University   (South Korea)

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

Author keywords

Charcot Marie Tooth disease (CMT); HADHB; Mitochondrial trifunctional protein (MTP); Whole exome sequencing (WES)

Indexed keywords

ACYLCARNITINE; CARNITINE; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN; MUTANT PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; DNA PURIFICATION; DNA TRANSFECTION; ELECTROMYOGRAPHY; GAIT DISORDER; GENE; GENE MUTATION; HALF LIFE TIME; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HYDROXYACYL COA DEHYDROGENASE 3 KETOACYL COA THIOLASE ENOYL COA HYDRATASE GENE; LEG; LIMB WEAKNESS; LOWER LEG; MOTOR UNIT POTENTIAL; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE WEAKNESS; MYOGLOBINURIA; NEEDLE; NEEDLE ELECTROMYOGRAPHY; NERVE CONDUCTION DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PERONEUS NERVE PARALYSIS; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; SURAL NERVE; WALKING DIFFICULTY; WEAKNESS;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHARCOT-MARIE-TOOTH DISEASE; CHILD; EXOME; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; LEG; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, BETA SUBUNIT; MUSCULAR ATROPHY; MUTATION; PEDIGREE; POLYNEUROPATHIES; SURAL NERVE; YOUNG ADULT;

EID: 84890117140     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-125     Document Type: Article

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