Death in childhood is frequent in the severe form of the disease, due to respiratory failure. [uniprot.org]

Pediatric disease onset at age   16 years was found in 8 patients. [ojrd.biomedcentral.com]

All mutations in this residue were de novo and were associated with a severe clinical course, in particular in one male patient (H123Q). [ncbi.nlm.nih.gov]

Malignant Hyperthermia Malignant hyperthermia is a severe reaction to anesthetic agents and depolarizing muscle-blocking agents that manifests as muscle rigidity, fever, muscle necrosis, myoglobinuria, metabolic acidosis, kidney failure, and cardiac arrhythmias [clevelandclinicmeded.com]

She is, to our knowledge, the oldest reported case and the only patient described with severe mitral valve prolapse and scoliosis. [ncbi.nlm.nih.gov]

Onset during childhood or adulthood is characterised by mainly proximal muscle weakness, a rigid spine syndrome and a slowly progressive disease course. [rarediseases.info.nih.gov]

She developed at 10 months a psychomotor retardation with short and stiff neck, a progressive malignant scoliosis with axial and proximal muscle weakness, pelvic stiffness and shoulder girdles. She presents asymmetric hypertrophic cardiomyopathy. [medworm.com]

She had proximal muscle weakness, progressive spinal rigidity, and scoliosis. There was no apparent cardiac involvement. [omim.org]

Patients typically present with proximal muscle weakness of legs more than arms, with no sensory involvement. [clevelandclinicmeded.com]

At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. [ncbi.nlm.nih.gov]

Distal arthrogryposis has also been described as due to a mutation in TPM2 .20 Presentation is at birth with flexion contractures of hands and feet. [emedicine.medscape.com]

On the other hand, enlarged densely stained myonuclei, in addition to the presence of many reducing bodies, were striking on light microscopy, and chromatin condensation was seen on electron microscopy. [ncbi.nlm.nih.gov]

She developed at 10 months a psychomotor retardation with short and stiff neck, a progressive malignant scoliosis with axial and proximal muscle weakness, pelvic stiffness and shoulder girdles. She presents asymmetric hypertrophic cardiomyopathy. [medworm.com]

retardation and characteristic facies-2, see UNC80 deficiency infantile leukoencephalopathy and megalencephaly, see Megalencephalic leukoencephalopathy with subcortical cysts Infantile Multiple Carboxylase Deficiency, see Holocarboxylase synthetase deficiency [herenciageneticayenfermedad.blogspot.com]

[…] in those with RYR1 mutations Core–rod myopathy AD/AR AR AD α-Actin 1 ( ACTA1 ) Nebulin ( NEB ) Kelch repeat and BTB/ ( KBTBD13 ) Onset in infancy or childhood. [neurology.mhmedical.com]

His mother, on the other hand, noticed foot-drop at the age 29, but the clinical course was rapidly progressive, and she was wheelchair-bound at 34years. Both patients had generalized muscle weakness and atrophy and with mild CK elevation. [ncbi.nlm.nih.gov]

The first symptoms usually involve weakness of the lower extremities, with affected individuals often presenting with foot drop. Age-of-onset ranges from late teens to the fourth decade. [genedx.com]

Associated clinical findings include asymmetric weakness, foot drop and dysphagia. [ 10 ] Weakness is often asymmetrical in contrast to polymyositis. [patient.info]

Centronuclear myopathy: weakness of voluntary muscles, including those on the face, arms, legs, and trunk; drooping upper eyelids; facial weakness; foot drop; affected muscles almost always lack reflexes. [healthofchildren.com]

Baseline clinical and echocardiographic characteristics were compared among patients with and without myocardial fibrosis by card... [medworm.com]

Miura K, Shirasawa H: Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography. Acta Pathol Jpn 1987;37:1823–1835. [karger.com]

In both girls, serum creatine kinase was increased, and skeletal muscle biopsies showed inclusion bodies that stained with NBT. [omim.org]