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arthrogryposis multiplex congenita +
atrophic muscular disease +
Axial Myopathy, Late-Onset +
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
Carey-Fineman-Ziter syndrome +
combined oxidative phosphorylation deficiency 2
combined oxidative phosphorylation deficiency 3
Congenital Infantile Lactic Acidosis +
Congenital Myopathy with Neuropathy and Deafness
Congenital Universal Muscular Hypoplasia of Krabbe
Craniomandibular Disorders +
Defect of Tricarboxylic Acid Cycle
Early-Onset Myopathy with Fatal Cardiomyopathy
Ehlers-Danlos syndrome kyphoscoliotic type 2
eosinophilia-myalgia syndrome
Erythrocyte Amp Deaminase Deficiency
Erythrocyte Lactate Transporter Defect
familial periodic paralysis +
Fingerprint Body Myopathy
Gamstorp-Wohlfart syndrome
Granulovacuolar Lobular Myopathy with Electrical Myotonia
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
Hyperglycinemia, Lactic Acidosis, and Seizures
Hypertrophia Musculorum Vera
Internal Anal Sphincter Myopathy
Kocher-Debre-Semelaigne Syndrome
Lactic Acidosis, Chronic Adult Form
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis
Marinesco-Sjogren syndrome
Medial Tibial Stress Syndrome
mitochondrial DNA depletion syndrome 9
Mitochondrial DNA Depletion Syndrome, Myopathic Form +
Mitochondrial Myopathy with Lactic Acidosis
mitochondrial pyruvate carrier deficiency
myofascial pain syndrome +
Myopathic Carnitine Deficiency
Myopathy with Lactic Acidosis, Hereditary Hereditary myopathy with lactic acidosis is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype. yopathy with lactic acidosis, also known as Swedish type myopathy with exercise intolerance, is caused by homozygous or compound heterozygous mutation in the ISCU gene, encoding the iron-sulfur cluster scaffold protein, on chromosome 12q24. (OMIM)
neutral lipid storage disease +
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Pectoralis Muscle, Absence of
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Proximal Myopathy with Focal Depletion of Mitochondria
Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E2 Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase Phosphatase Deficiency
Singleton Merten Syndrome +
Skeletal Muscle Reperfusion Injury
systemic primary carnitine deficiency disease
Tel Hashomer Camptodactyly Syndrome
Treft Sanborn Carey Syndrome
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Uruguay faciocardiomusculoskeletal syndrome
very long chain acyl-CoA dehydrogenase deficiency
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