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Free Carnitine Elevated Plasma Total Carnitine Normal to Elevated No Ketonuria No Dicarboxylic Aciduria Recurrent Encephalopathy No Staining for Periodic Acid Schiff No Staining for Oxidative Enzymes Positive Staining for Slow Myosin Heavy Chain Subsarcolemmal Hyaline Bodies in Type I Fibers (25-30%) Muscle Biopsy Shows Type I Fiber Predominance Onset Usually at Birth Onset in Neonatal Period or Early Infancy Mutation in the RYR1 Gene Minicores Extend Full Fiber Diameter Type 1 Fiber Atrophy Central Nucleation Increased Disorganization of the Myofibrillar Pattern Muscle Biopsy Shows Focal Loss of Cross Striations Walking May be Limited Difficulty Running or Inability to Run Limb Girdle and Proximal Muscle Atrophy Creatine Kinase Normal Infantile Myopia Prevalence in Northern Finland Increased Mutation in the Skeletal Muscle Chloride Channel 1 Gene EMG Shows Spontaneous Repetitive Electrical Activity Myotonia Improves with Continued Activity Myotonia is most Pronounced in the Extremities Irregular Femoral Epiphyses Short Vertebrae Progressive Impairment of Gait Difficult Intubation and Risk of Malignant Hyperthermia Contractures Most Severe by Midadolescence Progressive Disease with Onset in Infancy Small, High-Pitched Voice EMG - Repetitive Muscle Discharges Elbow Knee Shoulder Contractures Anterior Bowing of Long Bones Slender Diaphysis Fragmentation of Femoral Epiphyses Long Eyelashes In Irregular Rows Sad Fixed Facies Small Toenails Short 3rd Metacarpals Broad Distal Phalanx of Finger Prominent Columella See Also French-Canadian Type of Leigh Syndrome Clinical Heterogeneity Progressive Disorder with Rapid, Relentless Course Mutation in the Cytochrome C Oxidase Subunit 15 Gene Mutation in the NDUFS8 Gene Mutation in the NDUFS7 Gene Mutation in the NDUFS1 Gene Mutation in the NDUFV3 Gene Mutation in the Mitochondrial tRNA Lysine Gene Mutation in the NADH Dehydrogenase Subunit 5 Gene Mutation in the ATP Synthase 6 Gene Brainstem Abnormalities Death at Birth or Within First 2 Years of Life Many Adults with Typical Form Remain Ambulatory Slowly Progressive or Non-Progressive Course Variable Severity Ranging from 'Typical' to 'Severe' Disease Mutation in the NEB Gene Scoliosis (Onset around Puberty) Joint Deformities (May Develop Over Time) Absence of Spontaneous Activity at Birth Increased Fatty Infiltration Muscle Density on Imaging Decreased Nemaline Bodies Are Rarely Intranuclear Nemaline Bodies Are Usually Subsarcolemmal or Sarcoplasmic Proximal Limb Muscle Weakness Initially Extraocular Muscles Are Not Involved Fine Motor Activity Normal Slow Gross Motor Activity Failure to Achieve Sitting or Walking Lacunar Halos Around Chondrocytes in Skeletal Cartilage Hypoplastic Rounded Middle Phalanges Abducted Thumbs and Great Toes Short Dumbbell Femur Bifid Distal Humerus Vertebral Body Coronal Clefts Stillborn or Death Shortly after Birth Focal Adenomatous Hyperplasia of Beta Cells Possibly Diabetes Later in Life Insulin Deficiency May Develop Later in Life Trichorrhexis Invaginata - 'Bamboo Hair' Sparse Brittle Scalp Hair Enteropathy with Villous Atrophy Generalized Tissue Edema Puffiness of Feet Puffiness of Hands Poorly Mineralized Bones Round, Gaping Mouth Absence of Olfactory Bulbs Death Usually by Age 10 Years Thin Optic Chiasm Axonal 'Spheroid' Inclusions Axonal Swelling or Thickening Neuronal Loss in Central Nervous System Possibly Autonomic Involvement