Results 151 to 160 of about 1,745 (185)

GNE mutations causing distal myopathy with rimmed vacuoles with inflammation

Neurology, 2003
The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not.
I, Yabe, T, Higashi, S, Kikuchi, H, Sasaki, T, Fukazawa, K, Yoshida, K, Tashiro   +6 more
openaire   +2 more sources

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 and inflammation: A genetically proven case

Neurology India, 2012
Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic acid. Although reported predominantly from Japan, cases have been reported from other parts of the world.
Meena A, Kannan, S, Challa, Andoni J, Urtizberea, Martin, Krahn, A S, Jabeen, R, Borgohain   +5 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

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: Report on clinical characteristics in 23 cases

Neurology India, 2010
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive (AR) myopathy characterized clinically by the preferential involvement of the tibialis anterior and has been reported predominantly in the Japanese population.A case series of DMRV patients seen over a period of 3 years at a tertiary national referral center for neurological ...
Nalini, A., Gayathri, N., Dawn, Rose
openaire   +2 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

Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives

Current Opinion in Neurology, 2008
Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive, slowly progressive and debilitating myopathy due to mutations in the gene that regulates the synthesis of sialic acid. This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic ...
May Christine V, Malicdan, Satoru, Noguchi, Ichizo, Nishino   +2 more
openaire   +2 more sources