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Fraqueza Muscular Na Infância E Síndrome Do Lactente Hipotônico: Guia Para Avaliação Clínica E Propedêutica Diagnóstica
(Universidade Federal de São Paulo (UNIFESP), 2017-06-29)
On daily practice, besides having a sedimented theoretical knowledge, a neurologist must be capable of executing and interpreting a thorough neurological exam, leading to a better disclosure of patient’s complaints. This ...
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
(British Neuropathological Society, 2011)
Aims: To report the clinical, pathological and genetic
findings in a group of patients with a previously not
described phenotype of congenital myopathy due to
recessive mutations in the gene encoding the type 1
muscle ...
Multi-minicore disease revisited
(Assoc Arquivos De Neuro- PsiquiatriaSao Paulo SpBrasil, 2004)
Congenital myasthenic syndrome due to dok7 mutations in a family from chile
(2017)
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial ...
Understanding the congenital syphilis from the maternal lookCompreendendo a sífilis congênita a partir do olhar materno
(Universidade Federal de Santa Maria, 2019)
Congenital fiber-type disproportion myopathy: a case study
(UANL. Facultad de Medicina, 2015)
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 ...