Page 141 - AN-3-3
P. 141

Advanced Neurology                                                  Rare manifestation in nemaline myopathy



               features and mutational spectrum of 16 nemaline myopathy   onset nemaline myopathy. BMC Pulm Med. 2022;22:97-102.
               patients from a Chinese neuromuscular center. Acta Neurol      doi: 10.1186/s12890-022-01877-4
               Belg. 2022;122(3):631-639.
                                                               8.   Lindqvist J, Ma W, Li F, et al. Triggering typical nemaline
               doi: 10.1007/s13760-020-01542-9
                                                                  myopathy with compound heterozygous nebulin mutations
            3.   Chu M, Gregorio CC, Pappas CT. Nebulin, a multi-  reveals myofilament structural changes as pathomechanism.
               functional giant. J Exp Biol. 2016;219(2):146-152.  Nat Commun. 2020;11(1):2699.
               doi: 10.1242/jeb.126383                            doi: 10.1038/s41467-020-16526-9
            4.   Conen PE, Murphy EG, Donohue WL. Light and electron   9.   Wen Q, Chang X, Guo J. A  childhoodonset nemaline
               microscopic studies of “myogranules” in child with hypotonia   myopathy caused by novel heterozygote variants in the
               and muscle weakness. Can Med Assoc. 1963;89:983-986.  nebulin gene with literature review.  Acta Neurol Belg.
                                                                  2020;120:1351-1360.
            5.   Tian L, Ding S, You Y,  et al. Leiomodin-3-deficient mice
               display nemaline myopathy with fast-myofiber atrophy. Dis      doi: 10.1007/s13760-019-01230-3
               Model Mech. 2015;8:635-641.
                                                               10.  Wallgren-Pettersson C,  Lehtokari VL,  Kalimo H.  Distal
               doi: 10.1242/dmm.019430                            myopathy caused by homozygous missense mutations in the
                                                                  nebulin gene. Brain. 2007;130:1465-1476.
            6.   Moreno CA, Artilheiro MC, Fonseca AT,  et al. Clinical
               manifestation of nebulin-associated nemaline myopathy.      doi: 10.1093/brain/awm094
               Neurol Genet. 2023;9(1):e200056.
                                                               11.  Sztal TE, McKaige EA, Williams C, Ruparelia AA, Bryson-
               doi: 10.1212/NXG.0000000000200056                  Richardson RJ. Genetic compensation triggered by actin
                                                                  mutation prevents the muscle damage caused by loss of actin
            7.   Kirupaharan P, Kramer D, Gandler A, Kenyon L, Summer R.
               68-year old man with progressive weakness and ventilator   protein. PLOS Genet. 2018;14(2):e1007212.
               dependent respiratory failure: A case report of sporadic late      doi: 10.1371/journal.pgen.1007212















































            Volume 3 Issue 3 (2024)                         5                                doi: 10.36922/an.3171
   136   137   138   139   140   141   142   143   144