Abstract Background The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The p.Ser113Leu mutation is the most frequent in the European population. Only lower-leg magnetic resonance imaging findings have been reported, with gluteus maximus involvement in one case and normal imaging in other patients. Case presentation Two Native South American siblings, a boy and a girl, presented to our neuromuscular clinic with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. During ep...
As genotype-phenotype correlations require the study of large patient populations, we investigated 4...
Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common ca...
Aim. To raise the awareness of adult-onset carnitite palmitoyltransferase II deficiency (CPT II) by ...
Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disord...
Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disord...
Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disord...
Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inherited disorder related to recurr...
Carnitine palmitoyltransferase II (CPT II) deficiency is the most common inherited disorder of lipid...
Objectives: Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder...
We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following ex...
CPT (carnitine palmitoyltransferase) II muscle deficiency is the most common form of muscle fatty ac...
BACKGROUND: Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder...
The most common cause of recurrent rhabdomyolysis in childhood is inherited metabolic disorders. Car...
Introduction: Carnitine palmitoytransferase II (CPTII) deficiency is a recessively inherited disor...
Abstract Background Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare mitochondrial fat...
As genotype-phenotype correlations require the study of large patient populations, we investigated 4...
Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common ca...
Aim. To raise the awareness of adult-onset carnitite palmitoyltransferase II deficiency (CPT II) by ...
Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disord...
Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disord...
Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disord...
Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inherited disorder related to recurr...
Carnitine palmitoyltransferase II (CPT II) deficiency is the most common inherited disorder of lipid...
Objectives: Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder...
We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following ex...
CPT (carnitine palmitoyltransferase) II muscle deficiency is the most common form of muscle fatty ac...
BACKGROUND: Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder...
The most common cause of recurrent rhabdomyolysis in childhood is inherited metabolic disorders. Car...
Introduction: Carnitine palmitoytransferase II (CPTII) deficiency is a recessively inherited disor...
Abstract Background Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare mitochondrial fat...
As genotype-phenotype correlations require the study of large patient populations, we investigated 4...
Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common ca...
Aim. To raise the awareness of adult-onset carnitite palmitoyltransferase II deficiency (CPT II) by ...