Background Several families have been described in which a mutation of mitochondrial DNA,
the substitution of guanine for adenine (A-to-G) at position 3243 of leucine transfer RNA, is …

Objective The fukutin gene (FKTN) is the causative gene for Fukuyama‐type congenital
muscular dystrophy, characterized by rather homogeneous clinical features of severe muscle …

We describe an unique patient presenting with severe leukodystrophy compatible with
Pelizaeus‐Merzbacher disease and peripheral neuropathy consistent with Charcot‐Marie‐Tooth …

BACKGROUND AND PURPOSE: Subacute necrotizing encephalomyelopathy, or Leigh
syndrome (LS), is a progressive neurodegenerative disorder characterized by symmetrical …

Guillain–Barré syndrome (GBS) is classified into acute inflammatory demyelinating
polyneuropathy (AIDP) and acute motor axonal neuropathy (AMAN), but little is known about the …

Rett syndrome (RTT) is a major neurodevelopmental disorder, characterized by mental
retardation and autistic behavior. Mutation of the MeCP2 gene, encoding methyl CpG-binding …

A new point mutation at nucleotide pair 3291 in the mitochondrial tRNA-Leu(UUR) gene
was found in a Japanese MELAS patient. The nucleotides at the mutated site were …

We describe four infants with a novel subtype of an isolated deficiency of one of the
peroxisomal β-oxidation enzymes with detectable enzyme protein. The patients showed …

We present 2 cases of narcolepsy with prepubertal onset. Although excessive daytime
sleepiness and cataplexy had appeared early in both patients, the presence of sleep-onset rapid …

We report, for the first time, on a female Becker muscular dystrophy (BMD) patient with
homozygous dystrophin deletion. The 14‐year‐old patient, product of consanguineous parents, …