Mitochondrial Myopathy with DNA Depletion
Pediatric Neurology Briefs, 1992 Five children with mitochondrial myopathy associated with depletion of muscle mtDNA are reported from the Departments of Neurology and Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY and other centers in ...
J Gordon Millichap
doaj +1 more source
Do lycra garments improve function and movement in children with cerebral palsy? [PDF]
, 2010 The mother of a 5-year-old boy with athetoid cerebral palsy complains of difficulties putting his Lycra suit on each day. She is keen to know if it actually helps improve his function and movement.
Coghill, J. E., Simkiss, Douglas E.
core +1 more source
Acute Onset Infantile Spinal Muscular Atrophy
Pediatric Neurology Briefs, 2001 Two infants who were asymptomatic at birth and presented at 3 and 6 months of age with acute onset generalized muscle weakness and hypotonia following respiratory infection are reported from the Schneider’s Children Hospital, New Hyde Park, NY.
J Gordon Millichap
doaj +1 more source
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy
Frontiers in Neurology, 2019 Pathogenic variants in the LONP1 gene have been associated with CODAS syndrome (Cerebral, Ocular, Dental, Auricular, and Skeletal Anomalies Syndrome). A recent report identified the first newborn case with LONP1-related mitochondrial cytopathy due to a ...
Fady Hannah-Shmouni +6 more
doaj +1 more source
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]
, 2013 Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne +9 more
core +2 more sources
Serum Hsp70 antigen: Early diagnosis marker in perinatal asphyxia [PDF]
, 2015 BACKGROUND: Perinatal asphyxia is an important cause of mortality and permanent neurological and developmental deficit. Early and accurate diagnosis would help to establish the likely prognosis and may also help in determining the most appropriate ...
Boskabadi, Hassan +6 more
core +1 more source
A Rare Case of Severe Congenital RYR1-Associated Myopathy
Case Reports in Genetics, 2018 Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity ...
Nicola Laforgia +8 more
doaj +1 more source
Global Medical Genetics, 2022 Background Hypotonia occurs as a result of neurological dysfunction in the brain, brainstem, spinal cord, motor neurons, anterior horn cells, peripheral nerves, and muscles.
Damla Eker +6 more
doaj +1 more source
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems [PDF]
, 2016 Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated ...
Agrawal +92 more
core +3 more sources