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Term:
Myopathy with Lactic Acidosis, Hereditary (DOID:9006323)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
lactic acidosis +     
muscular disease +     
Anal Sphincter Myopathy, Internal 
Arthrogryposis +   
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  
chronic fatigue syndrome  
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 3  
compartment syndrome +   
Congenital Infantile Lactic Acidosis +   
Congenital Myopathy with Neuropathy and Deafness  
Contracture +   
Craniomandibular Disorders +   
diaphragm disease +   
Dimauro Disease  
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 +   
fibromyalgia +   
Fingerprint Body Myopathy 
Gamstorp-Wohlfart syndrome  
GRACILE syndrome  
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hypertrophia Musculorum Vera 
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  
Muscle Cramp +   
Muscle Rigidity +   
Muscle Spasticity +   
muscle tissue disease +   
Muscle Weakness +   
Muscular Hypoplasia, Congenital Universal, of Krabbe 
Musculoskeletal Pain +   
Myalgia +   
myofascial pain syndrome +   
Myopathic Carnitine Deficiency 
myopathy +   
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)
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 
MYOPATHY, SCAPULOHUMEROPERONEAL  
myositis +   
myostatin-related muscle hypertrophy  
myotonic disease +   
Myotoxicity 
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  
polymyalgia rheumatica  
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  
Rhabdomyolysis +   
Singleton Merten Syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
systemic primary carnitine deficiency disease  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
Treft Sanborn Carey Syndrome 
Tricarboxylic Acid Cycle, Defect of 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Uruguay Faciocardiomusculoskeletal Syndrome  
Vacuolar Myopathy  
very long chain acyl-CoA dehydrogenase deficiency  

Synonyms
Exact Synonyms: HML ;   Iron-Sulfur Cluster Deficiency Myopathy ;   Myoglobinuria due to Abnormal Glycolysis ;   Myopathy with Deficiency of ISCU ;   Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme ;   Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase ;   Myopathy with Exercise Intolerance, Swedish Type
Primary IDs: MESH:C564972 ;   OMIM:255125
Alternate IDs: RDO:0013750

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.