Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family
Manuel Comabella, John S. Waye, Nuria Raguer, Barry Eng, Carmen Domínguez, Carmen Navarro, Cecilia Borrás, William Krivit, Xavier MontalbánVolume:
50
Year:
2001
Language:
english
Pages:
5
DOI:
10.1002/ana.1076
File:
PDF, 3.22 MB
english, 2001