Nemaline myopathy (NM) is the most common congenital myopathy inherited in an autosomal dominant or autosomal recessive manner. It is characterized by the presence of rods or nemaline bodies, which are red-purple inclusions in myofibers detected by modified Gomori trichrome technique. The hallmark symptoms are generalized muscle weakness with facial involvement or predominant involvement of proximal limb and respiratory muscles. Currently, NM is classified into six different forms: severe congenital (neonatal) form; Amish NM, intermediate congenital form; typical congenital form; childhood-onset form; and adult-onset (late-onset) form. Mutations in several genes, encoding components of the sarcomeric thin filaments, have been identified. Mutations in ACTA1 and NEB nebulin are the most common.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C72 Congenital myopathies
H00698 Nemaline myopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H00698 Nemaline myopathy
Sambuughin N, Yau KS, Olive M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG
Title
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG
Title
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH
Title
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerriere A, Gregorio CC, Ottenheijm CA, Bonnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF
Title
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N
Title
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
AMC1, neurogenic, with myelin defect [DS:H02358] AMC2, neurogenic type AMC3, myogenic type AMC4, neurogenic, with agenesis of the corpus callosum AMC5 AMC6
Description
Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental depends on the specific type. It has been reported that mutations in ERGIC1 cause AMC neuropathic type. ERGIC1 encodes a membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD26 Syndromes with limb anomalies as a major feature
H02299 Arthrogryposis multiplex congenita
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02299 Arthrogryposis multiplex congenita
Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerriere A, Reversade B, Melki J
Title
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Seidahmed MZ, Al-Kindi A, Alsaif HS, Miqdad A, Alabbad N, Alfifi A, Abdelbasit OB, Alhussein K, Alsamadi A, Ibrahim N, Al-Futaisi A, Al-Maawali A, Alkuraya FS
Title
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
