Results 11 to 20 of about 1,216 (116)

Nemaline Myopathy

Pediatric Neurology Briefs, 1988
A boy, 5 years of age, with nemaline myopathy complicated by respiratory failure and hypertrophic cardiomyopathy is reported from the Albany Medical College, Albany, NY.
J Gordon Millichap
doaj   +2 more sources

Congenital Nemaline Myopathy

Pediatric Neurology Briefs, 1994
A female neonate with a rapidly fatal course of nemaline myopathy is reported from the University of Siena, Italy.
J Gordon Millichap
doaj   +2 more sources

Nemaline myopathy: A report of four cases

Annals of Indian Academy of Neurology, 2007
Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital myopathies characterized by the formation of nemaline rods within muscle fibers.
Deepti A, Gayathri N, Veerendra Kumar M, Shankar Susarla   +3 more
doaj   +1 more source

Dominantly Inherited Nemaline Myopathy

Pediatric Neurology Briefs, 2003
A locus on chromosome 15q21-23 for a dominantly inherited nemaline myopathy with core-like lesions is reported in two unrelated families evaluated at University Medical Center, Nijmegen, The Netherlands.
J Gordon Millichap
doaj   +2 more sources

Respiratory treatment in a patient with nemaline myopathy

Clinics and Practice, 2019
Respiratory involvement of nemaline myopathy is evident on the diaphragm and intercostal muscles function. The present case study aimed to describe the characteristics of the respiratory physiotherapeutic treatment in a patient with nemaline myopathy ...
Massimiliano Polastri, Gioacchino Schifino, Eva Tonveronachi, Francesco Tavalazzi   +3 more
doaj   +2 more sources

Nemaline Myopathy: Clinical Study

Pediatric Neurology Briefs, 2001
Clinical and genetic characteristics, prognostic risk factors, and classification of nemaline myopathy (NM) are examined in a study of 143 cases identified at two centers in Australia and North America and reported from the Neurogenetics Research Unit ...
J Gordon Millichap
doaj   +2 more sources

Nemaline Myopathy: Respiratory Failure

Pediatric Neurology Briefs, 1991
A Japanese boy with nemaline myopathy diagnosed at three years of age and complicated by severe respiratory failure at 8 years is reported from the Division of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, Kodaira,
J Gordon Millichap
doaj   +2 more sources

Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods?

BMJ Neurology Open
Background Late-onset sporadic nemaline myopathy (SLONM) is a rare, treatable or potentially life-threatening muscle disorder that typically manifests late in life and is characterised by the presence of nemaline rods within muscle fibres, serving as the
Menachem Sadeh, Yakov Fellig, Ron Dabby
doaj   +2 more sources

Rare nemaline myopathy (a case report)

Гений oртопедии, 2022
Introduction Nemaline myopathies (NM) are a group of neuromuscular diseases, the distinctive histological feature of which are nemaline rods in myosymplasts.
Nikolai S. Migalkin, Galina N. Filimonova, Oksana G. Prudnikova, Igor N. Mezentsev   +3 more
doaj   +1 more source

Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment

BMC Neurology, 2023
Background Sporadic late onset nemaline myopathy is a rare, progressive muscle disease, presenting in adulthood, mainly affecting proximal limb and bulbar muscles. Muscle biopsies show characteristic nemaline rods.
Anirban Nandy, Hatice Tankisi, Anne Bruun Krøigård, Maiken Glud Dalager, Marie Skov Hvidbjerg, Henrik Daa Schrøder, Izabella Obál   +6 more
doaj   +1 more source