Phenotypical features of a Moroccan family with autosomal recessive XXXX associated with the @entity38011 mutation in the @entity38008 gene.

@entity1 @entity17 @entity5109 @entity5108 @entity16 @entity38011 @entity38008 @entity74 @entity21
BACKGROUND: The first locus for demyelinating autosomal recessive @entity5108 (ARCMT) disease was identified in 8q13, where mutations in @entity38008 have been found. Mutations in the same gene have been detected in families with @entity74 . OBJECTIVE: To determine the clinical, electrophysiologic, and morphologic characteristics of a consanguineous Moroccan family with @entity74 associated with the @entity38011 mutation in the @entity38008 gene. METHODS: Four @entity1 from a consanguineous Moroccan family were examined clinically and electrophysiologically. In one @entity1 , a morphometric and ultrastructural study of a peroneal nerve biopsy sample was performed. Mutation in the coding region of the @entity38008 gene was identified by direct sequencing. RESULTS: @entity16 was evident early in childhood, walking was delayed in one @entity1 , and onset of symptoms occurred before 18 months in the others. The phenotype was severe: @entity5109 and disabilities involving the hands and feet developed toward the end of the first decade, followed by involvement of proximal muscles in the lower limbs, leading to loss of autonomy. Electrophysiologic findings were consistent with an axonal form of CMT disease: motor nerve conduction velocities, recordable in one @entity1 only, were greater than 40 m/sec. Sensory nerve action potentials were either abolished or substantially reduced in amplitude. The morphologic data supported the diagnosis of @entity16 , showing a marked @entity17 and signs of axonal regeneration, including frequent pseudo-onion bulb formations. The 4 @entity1 in this family were homozygous for the @entity38011 mutation in the @entity38008 gene. CONCLUSION: Electrophysiologic and pathological findings support the hypothesis of an @entity21 in this ARCMT family with the @entity38011 mutation in the @entity38008 gene.
