Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Avraham Zeharia, Avraham Shaag, Riekelt H. Houtkooper, +10

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsPathologyMedicine +2

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

Yves de Keyzer, Vassili Valayannopoulos, Jean‐François Benoist, +9

Pediatric Research

UrologyMultiple Oxphos DeficiencyMethylmalonic AciduriaMedicineSkeletal Muscle +6

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

Diego Martinelli, Lorena Travaglini, Christian A. Drouin, +11

Brain

Mednik SyndromePathologyZinc Acetate TherapyTranslational MedicineBiochemical Genetics +16

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice

Laurent Foiry, Li Dong, Cédric Savouret, +4

Human Genetics

Knockout MouseGenome InstabilityLineage PlasticityLimiting FactorGenetic Disorder +7

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Caroline Michot, Laurence Hubert, Michèle Brivet, +19

Human Mutation

Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion

M. Mar González‐Barroso, Irina Giurgea, Frédéric Bouillaud, +6

PLoS ONE

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, +26

Brain

Neurodevelopmental DisordersChannelopathiesCerebellar AtrophyDevelopmental BiologyMendelian Disorder +13

Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Yohan Sorèze, Audrey Boutron, Florence Habarou, +15

Orphanet Journal of Rare Diseases

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Metodi D. Metodiev, S. Gerber, Laurence Hubert, +15

Journal of Medical Genetics

Study of <i>LPIN1</i>, <i>LPIN2</i> and <i>LPIN3</i> in rhabdomyolysis and exercise‐induced myalgia

Caroline Michot, Laurence Hubert, Norma B. Romero, +24

Journal of Inherited Metabolic Disease