An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heterozygous missense GARS gene mutation (D500N) was identified.
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation / R. Del Bo , F. Locatelli , S.P. Corti , M. Scarlato , S. Ghezzi , A. Prelle , G. Fagiolari, M. Moggio , M. Carpo , N. Bresolin , G.P. Comi. - In: NEUROLOGY. - ISSN 0028-3878. - 66:5(2006), pp. 752-754.
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
R. Del BoPrimo
;F. LocatelliSecondo
;S.P. Corti;M. Carpo;N. BresolinPenultimo
;G.P. ComiUltimo
2006
Abstract
An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heterozygous missense GARS gene mutation (D500N) was identified.
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