Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease

We describe three brothers suffering from Krabbe's disease with onset in the fifth decade. The proband showed a complete deficiency of leukocyte enzyme galactocerebrosidase and was found to be heterozygous for two previously described mutations: G>A809 and 502T/del consisting of a 30 kb dele...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2002-05, Vol.12 (4), p.386-391
Hauptverfasser:	Sabatelli, M, Quaranta, L, Madia, F, Lippi, G, Conte, A, Lo Monaco, M, Di Trapani, G, Rafi, M.A, Wenger, D.A, Vaccaro, A.M, Tonali, P
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Biopsy Family Health Humans Hypomyelination Late onset Krabbe’s disease Leukodystrophy, Globoid Cell - complications Male Microscopy, Electron Middle Aged Myelin Sheath - pathology Myelin Sheath - ultrastructure Nerve biopsy Neuropathy Nuclear Family Peripheral Nervous System Diseases - complications Peripheral Nervous System Diseases - pathology Sural Nerve - pathology Sural Nerve - ultrastructure
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