Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis [4]

Journal of the Peripheral Nervous System

Volumn 10, Issue 4, 2005, Pages 388-389

  Rajabally, Yusuf A ^a   Abbott, Richard J ^a  

^a LEICESTER GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; METHIONINE; METHYLPREDNISOLONE; MYELIN PROTEIN; THREONINE;

ADULT; BLADDER DYSFUNCTION; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; DENATURING GRADIENT GEL ELECTROPHORESIS; DISEASE ASSOCIATION; DISTAL PARESTHESIA; DNA SEQUENCE; DYSESTHESIA; FASCICULATION; FEMALE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LETTER; MPZ GENE; MULTIPLE SCLEROSIS; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NEURITIS; PARAPLEGIA; PERCEPTION DEAFNESS; PRIORITY JOURNAL; URINE CATHETER; URINE RETENTION; GENETICS; MIDDLE AGED; MUTATION;

CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; METHIONINE; MIDDLE AGED; MULTIPLE SCLEROSIS; MUTATION; MYELIN P0 PROTEIN; THREONINE;

EID: 33644845363     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1085-9489.2005.00054.x     Document Type: Letter

References (5)

1. Almsaddi M Bertorini TE Seltzer WK ( 1998). Demyelinating neuropathy in a patient with multiple sclerosis and genotypical HMSN-1. Neuromuscul Disord 8 : 87 89.
2. De Jonghe P Timmerman V Ceuterick C Nelis E De Vriendt E Löfgren A Vercruyssen A Verellen C Van Maldergem L Martin JJ Van Broeckhoven C ( 1999). The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122 : 281 290.
3. Delalande S De Seze J Ferriby D Stojkovic T Vermersch P ( 2002). Late onset multiple sclerosis. Rev Neurol (Paris) 158 : 1082 1087.
4. Frasson E Polo A Di Summa A Fabrizi GM Taioli F Fiaschi A Rizzuto N Moretto G ( 2004). Multiple sclerosis associated with duplicated CMT1A: a report of two cases. J Neurol Neurosurg Psychiatry 63 : 413 414.
5. Kurihara S Adachi Y Imai C Araki H Hattori N Numakura C Lin Y Hayasaka K Sobue G Nakashima K ( 2004). Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation. J Neurol Neurosurg Psychiatry 75 : 1492 1494.