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Titel:

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Dokumenttyp:
Journal Article; Article
Autor(en):
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
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...     »
Zeitschriftentitel:
Clin Genet
Jahr:
2018
Band / Volume:
93
Heft / Issue:
2
Seitenangaben Beitrag:
255-265
Sprache:
eng
Volltext / DOI:
doi:10.1111/cge.13084
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/28653766
Print-ISSN:
0009-9163
TUM Einrichtung:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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