Results 121 to 130 of about 1,189 (168)

Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation

Journal of the Neurological Sciences, 1981
Three cases from 2 families had muscle weakness with predilection for distal extremities, predominantly affecting the tibialis anterior muscles, and onset in early adulthood. The disorder seemed to be inherited through an autosomal recessive trait. The EMG demonstrated a myopathic pattern and CPK was mildly elevated.
I, Nonaka, N, Sunohara, S, Ishiura, E, Satoyoshi   +3 more
openaire   +2 more sources

[Distal myopathy with rimmed vacuoles(DMRV)].

Nihon rinsho. Japanese journal of clinical medicine, 1998
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive muscular disorder that has been predominantly reported to occur in Japanese population. This disease is characterized clinically by weakness of the distal muscles in the lower limbs in early adulthood, most typically in the tibialis anterior muscle presenting with footdrop. Recently,
T, Ikeuchi, S, Tsuji
openaire   +1 more source

Distal myopathy with rimmed vacuoles in a case of opercular syndrome

Brain and Development, 2006
We report the case of a 30-year-old man with opercular syndrome who developed distal myopathy with rimmed vacuoles (DMRV). Muscle biopsy showed variation in fiber size and scattered fibers with rimmed vacuoles. The identification of a homozygous c. 1714G>C (p. V572L) mutation in the GNE gene genetically confirmed the diagnosis of DMRV, which is thought
Yoshitaka, Toriumi, Yuichi, Takusa, Atsushi, Uchiyama, Masahiko, Kimura, Hitoshi, Sejima, Seiji, Yamaguchi, Isematsu, Eda, Ichizo, Nishino, Ikuya, Nonaka   +8 more
openaire   +2 more sources

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

Neuromuscular Disorders, 2013
GNE myopathy is a rare and mildly progressive autosomal recessive myopathy caused by GNE mutations. Respiratory dysfunction has not been reported in GNE myopathy patients. In this study, we retrospectively reviewed the respiratory function of 39 severely affected GNE myopathy patients (13 men, 26 women) from medical records, and compared these ...
Madoka, Mori-Yoshimura, Yasushi, Oya, Yukiko K, Hayashi, Satoru, Noguchi, Ichizo, Nishino, Miho, Murata   +5 more
openaire   +2 more sources

Molecular pathomechanism of distal myopathy with rimmed vacuoles.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2006
Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM) are now known to be the same disease and are caused by mutations in tile GNE gene that encodes a bifunctional protein with two enzymatic activities: UDP-GlcNAc2-epimerase (GNE) and ManNAc kinase (MNK).
I, Nishino, May Christine V, Malicdan, K, Murayama, I, Nonaka, Y K, Hayashi, S, Noguchi   +5 more
openaire   +3 more sources

Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene

Neurology, 2002
The authors present three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, the causative gene for hereditary inclusion body myopathy, in Japanese patients with distal myopathy with rimmed vacuoles.
H, Tomimitsu, K, Ishikawa, J, Shimizu, N, Ohkoshi, I, Kanazawa, H, Mizusawa   +5 more
openaire   +2 more sources

[Efficacy of Aceneuramic Acid for Distal Myopathy with Rimmed Vacuoles].

Brain and nerve = Shinkei kenkyu no shinpo, 2023
Distal myopathy with rimmed vacuoles (DMRV), also known as GNE myopathy, is a rare disease affecting the distal muscles, such as the tibialis anterior muscle. The GNE gene, which codes for a key enzyme in the sialic acid biosynthesis pathway, is mutated in a homozygous or compound heterozygous manner, and the lack of sialic acid in skeletal muscle is ...
Masashi, Aoki, Rumiko, Izumi, Naoki, Suzuki   +2 more
openaire   +1 more source

Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy

Neuromuscular Disorders, 1998
We investigated two Japanese siblings presenting with oculopharyngodistal myopathy, whose healthy parents were consanguineous. To clarify their disease characteristics, we compared them with four patients with distal myopathy with rimmed vacuoles linked to chromosome 9p1-q1, and 36 patients with oculopharyngeal muscular dystrophy linked to 14q11.2-q13.
E, Uyama, M, Uchino, D, Chateau, F M, Tomé   +3 more
openaire   +2 more sources

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

Journal of Neurology, Neurosurgery & Psychiatry, 2013
GNE myopathy (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by skeletal muscle atrophy and weakness that preferentially involve the distal muscles. It is caused by mutations in the gene encoding a key enzyme in sialic acid biosynthesis, UDP-N-acetylglucosamine 2 ...
Anna, Cho, Yukiko K, Hayashi, Kazunari, Monma, Yasushi, Oya, Satoru, Noguchi, Ikuya, Nonaka, Ichizo, Nishino   +6 more
openaire   +2 more sources

[Sialic Acid supplementation therapy for distal myopathy with rimmed vacuoles].

Brain and nerve = Shinkei kenkyu no shinpo, 2012
Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy, is an autosomal recessive disease that typically affects tibialis anterior and hamstring muscles in young adults although other muscles are also involved in later stages.
Ichizo, Nishino, Satoru, Noguchi
openaire   +1 more source