Chapter 600 Developmental Disorders of Muscle
Myogenic Regulatory Genes and Genetic Loci of Inherited Diseases of Muscle
Table 600-1 INHERITANCE PATTERNS AND CHROMOSOMAL OR MITOCHONDRIAL LOCI OF NEUROMUSCULAR DISEASES AFFECTING THE PEDIATRIC AGE GROUP
DISEASE | TRANSMISSION | LOCUS |
---|---|---|
Duchenne and Becker muscular dystrophy | XR | Xp21.2 |
Emery-Dreifuss muscular dystrophy | XR | Xq28 |
Myotonic muscular dystrophy (Steinert) | AD | 19q13 |
Facioscapulohumeral muscular dystrophy | AD | 4q35 |
Limb-girdle muscular dystrophy | AD | 5q |
Limb-girdle muscular dystrophy | AR | 15q |
Congenital muscular dystrophy with merosin deficiency | AR | 6q2 |
Congenital muscular dystrophy (Fukuyama) | AR | 8q31-33 |
Myotubular myopathy | XR | Xq28 |
Myotubular myopathy | AR | Unknown |
Nemaline rod myopathy (NEM1) | AD | 1q21-q23 |
Nemaline rod myopathy (NEM2) | AR | 2q21.2-q22 |
Nemaline rod myopathy (NEM3) | AD, AR | 1q42.1 |
Nemaline rod myopathy (NEM4) | AD | 9q13 |
Nemaline rod myopathy (NEM5) | AR | 19q13 |
Congenital muscle fiber-type disproportion | AR, X-linked R | 19p13.2, Xp23.12-p11.4, Xq13.1-q22.1; t(10; 17); sporadic |
Central core disease | AD | 19q13.1 |
Myotonia congenita (Thomsen) | AD | 7q35 |
Myotonia congenita (Becker) | AR | 7q35 |
Paramyotonia congenita | AD | 17q13.1-13.3 |
Hyperkalemic periodic paralysis | AD | 17q13.1-13.3 |
Hyperkalemic periodic paralysis | AD | 1q31-q32 |
Glycogenosis II (Pompe; acid maltase deficiency) | AR | 17q23 |
Glycogenosis V (McArdle; myophosphorylase deficiency) | AR | 11q13 |
Glycogenosis VII (Tarui; phosphofructokinase deficiency) | AR | 1cenq32 |
Glycogenosis IX (phosphoglycerate kinase deficiency) | XR | Xq13 |
Glycogenosis X (phosphoglycerate mutase deficiency) | AR | 7p12-p13 |
Glycogenosis XI (lactate dehydrogenase deficiency) | AR | 11p15.4 |
Muscle carnitine deficiency | AR | Unknown |
Muscle carnitine palmityltransferase deficiency 2 | AR | 1p32 |
Spinal muscular atrophy (Werdnig-Hoffmann; Kugelberg-Welander) | AR | 5q11-q13 |
Familial dysautonomia (Riley-Day) | AR | 9q31-33 |
Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth; Dejerine-Sottas) | AD | 17p11.2 |
Hereditary motor-sensory neuropathy (axonal type) | AD | 1p35-p36 |
Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth-X) | XR | Xq13.1 |
Mitochondrial myopathy (Kearns-Sayre) | Maternal; sporadic | Single large mtDNA deletion |
Mitochondrial myopathy (MERRF) | Maternal | tRNA point mutation at position 8344 |
Mitochondrial myopathy (MELAS) | Maternal | tRNA point mutation at positions 3243 and 3271 |
AD, autosomal dominant; AR, autosomal recessive; MELAS, mitochondrial encephalopathy lactic acidosis, and stroke; MERRF, myoclonic epilepsy with ragged-red fibers; mtDNA, mitochondrial deoxyribonucleic acid; tRNA, transfer ribonucleic acid; XR, X-linked recessive.