A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Dessein
Anne-Frédérique
AF
Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology, Center of Biology and Pathology Pierre-Marie Degand, CHRU Lille, 59037 Lille, France.
Fontaine
Monique
M
Andresen
Brage S
BS
Gregersen
Niels
N
Brivet
Michèle
M
Rabier
Daniel
D
Napuri-Gouel
Silvia
S
Dobbelaere
Dries
D
Mention-Mulliez
Karine
K
Martin-Ponthieu
Annie
A
Briand
Gilbert
G
Millington
David S
DS
Vianey-Saban
Christine
C
Wanders
Ronald J A
RJ
Vamecq
Joseph
J