Mitofusin 2 gene mutation causing early-onset cmt2a with different progressive courses

Clinical Neuropathology

Volumn 32, Issue 1, 2013, Pages 16-23

  Lv, He ^a   Wang, Lu ^a   Li, Wurong ^a   Qiao, Xiaohui ^a   Li, Yuexing ^a   Wang, Zhaoxia ^a   Yuan, Yun ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Charcot; Gene mutation; Marie; Mitofusin 2(MFN2); Neuropathology; Opticatrophy; Tooth2A2(CMT2A2)

Indexed keywords

MITOFUSIN 2; GUANOSINE TRIPHOSPHATASE; MFN2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

ABNORMAL SENSATION; ADOLESCENT; ADULT; ARTICLE; BICEPS BRACHII MUSCLE; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE EXACERBATION; ELECTROMYOGRAPHY; FEMALE; FOOT MALFORMATION; GASTROCNEMIUS MUSCLE; GENE MUTATION; GENE SEQUENCE; HAND MUSCLE; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY TYPE 2A2; HUMAN; HYPOALGESIA; LIMB WEAKNESS; MALE; MUSCLE ATROPHY; NEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SURAL NERVE; TENDON CONTRACTURE; TENDON REFLEX; DISEASE COURSE; GENETICS; GENOTYPE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE;

ADOLESCENT; ADULT; AGE OF ONSET; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; GENOTYPE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; YOUNG ADULT;

MLCS; MLOWN;

EID: 84876707162     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/NP300464     Document Type: Article

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