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Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
(BioMed Central Ltd.London, 2014-10)
Background: Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular
dystrophy caused by mutations in the telethonin gene. There are few LGMD2G patients worldwide reported, and
this ...
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
(BioMed Central, 2014-10-04)
Abstract
Background
Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There ...
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
(2014-10-04)
Abstract
Background
Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There ...
Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course
(ELSEVIER SCIENCE BV, 2009)
We describe the long-term clinical outcome of a patient with Leigh-like syndrome presenting as an early onset encephalopathy and peripheral neuropathy caused by the T8993G mutation in the mitochondrial DNA (mtDNA). Clinical ...
Atrofia monomiélica distal de extremidad superior. Caso clínico
(Sociedad Médica de Santiago, Chile, 2021)
Monomelic amyotrophy, also known as Hirayama disease, is a rare lower
motor neuron syndrome due to localized lower motor neuron loss in the spinal
cord at the cervical level. Clinically, monomelic amyotrophy is defined ...
Neuromyopathy with congenital cataracts and glaucoma: A distinct syndrome caused by POLG variants /692/308 /692/699 article
(Nature Publishing Group, 2018)
© 2018 European Society of Human Genetics.We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma ...
Estudo histoquímico do músculo esquelético no alcoolismo crônico
(Academia Brasileira de Neurologia - ABNEURO, 1989-06-01)
Twenty-two chronic acoholic patients were assessed by neurologic examination and muscle biopsy. The patients manifested proximal muscular weakness to a variable extent. One case presented as an acute bout of myopathy, ...
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review
(American Medical Association, 2019)
Distrofia muscular congênita estudo clinico de 17 pacientes
(Academia Brasileira de Neurologia - ABNEURO, 1991-09-01)
We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, ...