Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility
Abstract
:1. Introduction
2. Patients and Methods
3. Results
3.1. Patient 1
3.2. Patient 2
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Acknowledgments
Conflicts of Interest
References
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Patient 1 | Patient 2 | Bailey-Bloch Congenital Myopathy [11] | Grzybowski et al., 2017 [3] * | |
---|---|---|---|---|
Myopathic Facies | + | + | + | + |
Short stature | + | + | + | + |
Congenital Club Foot | + | + | + | + |
Hypotonia | + | + | + | + |
Ptosis | + | + | + | + |
Ogival Palate | + | + | + | + |
Cleft Palate | - | - | + | - |
Arthrogryposis | - | - | + | - |
Cryptorchidism | - | - | + | - |
Low Set Ears | + | + | + | + |
Difficulty in feeding | + | + | + | + |
Kyphoscoliosis | + | + | + | + |
Hearing loss | + | - | + | - |
Respiratory Insufficiency | + | + | + | + |
Facial Hypomimia | + | + | + | + |
Ligament Laxity | + | - | Rare | - |
Facial Hemangioma | - | + | Rare | - |
Variant | Lumbee Ancestry | Description without Lumbee Ancestry | Authors |
---|---|---|---|
c.997-1G>T | No | Yes | Zaharieva et al., 2018 [14] |
p.Leu255IlefsX58 | No | Yes | Telegrafi et al., 2017 [8] |
p.Trp284Ser | Yes | Yes | Telegrafi et al., 2017 [8] Horstick et al., 2013 [6] Zaharieva et al., 2018 [14] Gromand et al., 2022 [15] |
p.Lys288Ter | No | Yes | Grzybowski et al., 2017 [3] Murtazina et al., 2022 [16] |
c.432 + 4A>T | No | Yes | Grzybowski et al., 2017 [3] |
p.Lys32ArgfsTer78 | No | Yes | Murtazina et al., 2022 [16] |
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Gomes, G.R.F.; Mariano, T.C.; Braga, V.L.L.; Ribeiro, E.M.; Guimarães, I.P.; Pereira, K.S.A.F.; Nóbrega, P.R.; Pessoa, A.L.S. Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility. Brain Sci. 2023, 13, 1184. https://doi.org/10.3390/brainsci13081184
Gomes GRF, Mariano TC, Braga VLL, Ribeiro EM, Guimarães IP, Pereira KSAF, Nóbrega PR, Pessoa ALS. Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility. Brain Sciences. 2023; 13(8):1184. https://doi.org/10.3390/brainsci13081184
Chicago/Turabian StyleGomes, Gustavo Rodrigues Ferreira, Tamiris Carneiro Mariano, Vitor Lucas Lopes Braga, Erlane Marques Ribeiro, Ingred Pimentel Guimarães, Késia Sindy Alves Ferreira Pereira, Paulo Ribeiro Nóbrega, and André Luiz Santos Pessoa. 2023. "Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility" Brain Sciences 13, no. 8: 1184. https://doi.org/10.3390/brainsci13081184