TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient
Jorge Román Corona‐Rivera, Iván Martínez-Duncker, Éva Morava, Wasantha Ranatunga, Roberta Salinas-Marín, Ana González-Jaimes, Katia Alejandra Castillo‐Reyes, Christian Peña‐Padilla, Lucina Bobadilla‐Morales, Alfredo Corona‐Rivera, Mireya Orozco‐Vela, Sinhué Alejandro Brukman‐Jiménez
Topics & Concepts
Muscular dystrophyCongenital muscular dystrophyHypotoniaLimb-girdle muscular dystrophyMicrocephalyMedicineMuscle biopsyCompound heterozygosityEndocrinologyMyopathyMissense mutationInternal medicinePathologyBiologyPhenotypeGeneticsPediatricsBiopsyGeneMitochondrial Function and PathologyGenetic Neurodegenerative DiseasesMuscle Physiology and Disorders