TY - JOUR
T1 - Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
AU - Wortmann, Saskia B.
AU - Champion, Michael P.
AU - van den Heuvel, Lambert
AU - Barth, H.
AU - Trutnau, B.
AU - Craig, Kate
AU - Lammens, Martin
AU - Schreuder, Michiel F.
AU - Taylor, Robert W.
AU - Smeitink, Jan A.M.
AU - Wevers, Ron A.
AU - Rodenburg, Richard J.
AU - Morava, Eva
PY - 2012/10
Y1 - 2012/10
N2 - We present two new patients with the recently described mitochondrial m.3242G > A mutation. Although the mutation is situated next to the well known m.3243A > G mutation, the most common alteration associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, the clinical presentation is quite different, but characteristic. All three m.3242G > A patients presented in the neonatal period with hypertrophic and dilated cardiomyopathy, generalized muscle hypotonia and lactic acidosis. Two additionally had creatine kinase elevation, renal tubular acidosis/dysfunction and showed a mild clinical course with a favourable psychomotor development. The third patient had more neurological involvement and died in infancy. The mutation occurred de novo in the two patients where maternal investigations were performed. The combination of hypertrophic cardiomyopathy and renal tubular acidosis/renal tubular dysfunction is clinically distinctive and may represent a separate entity.
AB - We present two new patients with the recently described mitochondrial m.3242G > A mutation. Although the mutation is situated next to the well known m.3243A > G mutation, the most common alteration associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, the clinical presentation is quite different, but characteristic. All three m.3242G > A patients presented in the neonatal period with hypertrophic and dilated cardiomyopathy, generalized muscle hypotonia and lactic acidosis. Two additionally had creatine kinase elevation, renal tubular acidosis/dysfunction and showed a mild clinical course with a favourable psychomotor development. The third patient had more neurological involvement and died in infancy. The mutation occurred de novo in the two patients where maternal investigations were performed. The combination of hypertrophic cardiomyopathy and renal tubular acidosis/renal tubular dysfunction is clinically distinctive and may represent a separate entity.
KW - 3-Methylglutaconic aciduria
KW - CK elevation
KW - Lipid myopathy
KW - MELAS syndrome
KW - Mitochondriopathy
KW - Muscular hypotonia
UR - http://www.scopus.com/inward/record.url?scp=84866427227&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84866427227&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2012.06.002
DO - 10.1016/j.ejmg.2012.06.002
M3 - Article
C2 - 22781753
AN - SCOPUS:84866427227
SN - 1769-7212
VL - 55
SP - 552
EP - 556
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 10
ER -