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Copyright V. Ventruto / A. Di Luccio Genus database 8134 minicore myopathy, Ferreiro type multiminicore myopthy-antenatal onset-arthrogryposis multiminicore disease MmD Eponyms: Inheritance: autosomal recessive mitochondrial Semeiological Facio-muscular disorder. Dysmorphic face, arthrogryposis, hypotonia, respiratory distress, reduced foetal movements. Myopathy characterized by short core lesions (minicores) in most muscle fibers. Synthesis: Group Sub group Signs: DERMATOLOGICAL DISORDERS dermatoglyphics, changes dermatoglyphics, palmar creases modified GENITAL DISORDERS male genitalia, modifications not including ambiguity cryptorchidism JOINT DISORDERS joint, mobility reduction contractures, joint stifness, not including: arthrogriposis, camptodactyly LABORATORY DATA chromosomal assignment chromosome 19q localization chromosome 1p localization gene, structural-functional anomalies gene analysis-DNA analysis RYR1 (MHS) (CCO) ryanodine receptor-1 (skeletal), gene chr.19q13.1 SEPN1 (SELN) (RSMD1), gene chr.1p36-p35 plasma nonprotein-organic constituents, anomalies mitochondrial fatty-acid oxidation disorders tissue, biochemical changes mitochondrial defects muscular biochemical changes MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy muscle fibers: core lesions, including minicores and multiminicores muscular dystrophy, myopathy muscular, neurogenic atrophy OROCRANIOFACIAL ANOMALIES external ear malformations ear, low set facies, modified appearance dysmorphic face forehead-orbital region, changes eyelids, fissures, upslanting, mongoloid slant neck, modified appearance neck, short nose, modified appearance nasal bridge, nasal root, prominent OTHERS inheritance inheritance, autosomal recessive inheritance, mitochondrial minicore myopathy, Ferreiro type Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database supergroups arthro-facio-respiratory-skeletal disorders arthro-facio-skeletal disorders cutaneous-genito-skeletal disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques foetal movements decreased, foetal akinesia, foetal hypokinesia prenatal diagnosis prenatal diagnosis, echographic prenatal diagnosis, molecular RESPIRATORY DISORDERS respiratory distress respiratory distress, including asthma SKELETAL DISORDERS chest, changes chest, bell shaped fingers, modified form, deformity clinodactyly skull shape, changes dolichocephaly spine, changes kyphosis, including lumbar gibbus scoliosis, kyphoscoliosis Super group: arthro-facio-respiratory-skeletal disorders cutaneous-genito-skeletal disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: foetal changes, recognized by ultrasound techniques MITOCHONDRIAL DISORDERS mitochondrial fatty-acid oxidation disorders (FATMO disorders) MUSCULAR DISORDERS muscular dystrophy, myopathy muscular, neurogenic atrophy OTHER dysmorphic face 5660 17140 9049 2151 Differential diagnosis: Bibliography Christian-Andrews syndrome multicore myopathy rigid spine syndrome 1 Vedanarayanan syndrome OMIM ID: 607552 Neuromusc. Disord. 12,60-68,2002 Am.J.Hum.Genet. 71(4),739-749,2002 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.22852295,2007 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 570 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.29812984,2007 minicore myopathy, Ferreiro type Page 2 of 2
