TY  - GEN
AU  - Alston,Charlotte L
AU  - Ceccatelli Berti,Camilla
AU  - Blakely,Emma L
AU  - Oláhová,Monika
AU  - He,Langping
AU  - McMahon,Colin J
AU  - Olpin,Simon E
AU  - Hargreaves,Iain P
AU  - Nolli,Cecilia
AU  - McFarland,Robert
AU  - Goffrini,Paola
AU  - O'Sullivan,Maureen J
AU  - Taylor,Robert W
TI  - A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency
SN  - 1432-1203
PY  - 2015///0918
KW  - Amino Acid Substitution
KW  - Cardiomyopathy, Hypertrophic, Familial
KW  - enzymology
KW  - Citric Acid Cycle
KW  - genetics
KW  - Genes, Recessive
KW  - Heart Defects, Congenital
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mitochondrial Proteins
KW  - Mutation, Missense
KW  - Succinate Dehydrogenase
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00439-015-1568-z
ER  -