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Document type:
journal article 
Author(s):
Braunisch, M C; Gallwitz, H; Abicht, A; Diebold, I; Holinski-Feder, E; Van Maldergem, L; Lammens, M; Kovács-Nagy, R; Alhaddad, B; Strom, T M; Meitinger, T; Senderek, J; Rudnik-Schöneborn, S; Haack, T B 
Title:
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. 
Abstract:
Biallelic mutations in SLC25A46, encoding a modified solute transporter involved in mitochondrial dynamics, have been identified in a wide range of conditions such as hereditary motor and sensory neuropathy with optic atrophy type VIB (OMIM: *610826) and congenital lethal pontocerebellar hypoplasia (PCH). To date, 18 patients from 13 families have been reported, presenting with the key clinical features of optic atrophy, peripheral neuropathy, and cerebellar atrophy. The course of the disease wa...    »
 
Journal title abbreviation:
Clin Genet 
Year:
2018 
Journal volume:
93 
Journal issue:
Pages contribution:
255-265 
Language:
eng 
Fulltext / DOI:
Print-ISSN:
0009-9163 
TUM Institution:
Abteilung für Nephrologie